Congenital gastrointestinal and neural anomalies

This study shows that endothelin 3 and T-type Ca2+ channels regulate calcium activity, contractility, and migration of enteric neural crest cells, linking these processes to Hirschsprung disease.

The paper highlights the need for a unified multimodal approach to define cellular identity in the enteric nervous system using transcriptomic and other omics data.

This study uses whole-gut spatial genomic analysis in zebrafish to identify regionalized gene expression patterns in the developing enteric nervous system.

The paper assesses the functional impact of RET pathogenic variants in Hirschsprung disease by analyzing their effects on cell proliferation and migration in a neural crest-derived cell line.

The paper shows that two distinct ENS progenitor lineages use endothelin signaling differently to support migration to the hindgut.

This study uses a CRISPR-Cas9 screen in zebrafish to identify genes involved in enteric nervous system development, revealing opioid receptor involvement in ENS establishment.

The paper shows RET enhancer variants reduce gene expression and alter the fetal gut development program, potentially causing Hirschsprung disease through effects on neural crest cell proliferation.

This study shows that Ret loss-of-function in mouse embryos reduces enteric neural crest progenitor proliferation and limits neuronal fate potential during ENS development.

This study shows that age-related changes in the lineage composition of the enteric nervous system affect gut health, with mesoderm-derived neurons becoming dominant and functional effects on intestinal motility that can be reversed by GDNF.

The paper uses in toto imaging and single-cell tracing in zebrafish to show that Ret signaling regulates ENCC proliferation and migration, leading to HSCR-like phenotypes.

This study investigates the role of TALPID3/KIAA0586 in gastrointestinal development across species, showing its impact on tissue patterning and neural crest cell behavior.

The paper identifies 31 HSCR-associated variants in RET CREs, ten with differential enhancer activity and seven affecting RET expression, revealing an extensive regulatory code modulating HSCR risk.

The paper identifies common noncoding variants at RET, SEMA3, and NRG1 loci associated with Hirschsprung disease risk in European ancestry individuals, showing cumulative effects on gene expression.

The paper identifies large copy number losses as contributors to Hirschsprung disease, specifically in HSCR-AAM patients, and validates four genes involved in enteric nervous system development.

The paper identifies noncoding genetic variants associated with Hirschsprung disease using a framework that captures multi-granular regulatory element perturbations.

This study shows retinoic acid accelerates the generation of enteric neural progenitors from human pluripotent stem cells, which can form enteric neurons and colonize the ENS in mice.

This study examines the myenteric plexus architecture in maturing zebrafish larvae using immunohistochemical and ultrastructural analysis, revealing its layered structure and complexity.